汉族人AGT基因5'-调控区序列分析

Nucleotide Sequence at Position -155 to +25 of the 5′ Flanking Region of the Angiotensinogen Gene of Han People

目的分析汉族人血管紧张素原（ａｎｇｉｏｔｅｎｓｉｏｎｇｅｎ，ＡＧＴ）基因５′－调控区多态性及其与原发性高血压的关联。方法应用ＰＣＲ产物单链构象的多态性分析（ＰＣＲ－ＳＳＣＰ）和ＰＣＲ直接测序方法，鉴定１００例高血压患者和５０例正常血压对照者的血管紧张素原基因５′－调控区－１５５至＋２５ｂｐ核酸序列。结果（１）汉族人ＡＧＴ基因５′－调控区－２０位是腺嘌呤核苷酸（Ａ），而白种人该位是胞嘧啶核苷酸（Ｃ），这可能与种族相关联；（２）原发性高血压患者和正常血压对照者ＡＧＴ基因５′－调控区－４６位均存在Ｔ→Ａ单个碱基突变，但两组Ｔ→Ａ基因突变频率间差异无统计学意义。结论ＡＧＴ基因５′－调控区－４６位Ｔ→Ａ单个碱基突变与汉族原发性高血压不相关联，但ＡＧＴ基因５′－调控区－２０位为腺嘌呤核苷酸（Ａ）可能是汉族人的重要遗传标志之一。

Objective The nucleotide sequence at position -155 to +25 of the 5′ flanking region in angiotensinogen gene of Han people in Chinese population was identified by applying PCR single stranded conformational polymorphism(SSCP) and PCR directed sequencing. Results (1) The Han people carry an adenylate(A), instead of a cytidylate(C) at position -20 of the 5′ flanking region of AGT gene; (2) A new mutation T→A at position -46 was detected and A allele frequencies was similar in both hypertensives and normotensive controls. Conclusions The variant T→A at position -46 of AGT gene was not associated with hypertension, but an adenylate(A) at position -20 of the 5′ flanking region of AGT gene. might be an genetic marker for Hans people.